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Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features
SLC35A2-CDG is a rare type of X-linked CDG with more than 60 reported cases. We retrospectively analyzed clinical phenotypes and SLC35A2 genotypes of four cases of SLC35A2-CDG from four unrelated families of Han ethnicity in China. All patients had infantile onset epilepsies that were completely or...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8191577/ https://www.ncbi.nlm.nih.gov/pubmed/34122512 http://dx.doi.org/10.3389/fgene.2021.658786 |